Canonical Allele Identifier: CA293781878
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs907355938
gnomAD v2: 17-70118531-T-G
gnomAD v3: 17-72122390-T-G
gnomAD v4: 17-72122390-T-G
MyVariant Identifiers: chr17:g.70118531T>G (hg19) chr17:g.72122390T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122390T>G , CM000679.2:g.72122390T>G GRCh38
NC_000017.10:g.70118531T>G , CM000679.1:g.70118531T>G GRCh37
NC_000017.9:g.67630126T>G NCBI36
NG_012490.1:g.6371T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-329T>G MANE Select ENSP00000245479.2:n.432-329T>G
ENST00000245479.2:c.432-329T>G ENSP00000245479.2:n.432-329T>G
NM_000346.3:c.432-329T>G NP_000337.1:n.432-329T>G
NM_000346.4:c.432-329T>G MANE Select NP_000337.1:n.432-329T>G
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